GM21558
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE II; EDS2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
More than one race
|
|
Ethnicity
|
CAUCASIAN/NATIVE AMERICAN
|
|
Family Member
|
2
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically affected; joint pain and swelling; muscle pain; malar hypoplasia; soft auricles; abnormal dentation; high palate; deviated uvula; no gag reflex; blue sclerae; mild pectus excavatum; hyperextensible skin; scarring on foot; piezogenic papules; degree R scoliosis in upper thoracic spine; kyphosis; hyperextension in left shoulder, both elbows, both knees, and MCP, PIP and DIP joints; bony enlargements and tenderness in CMC, MCP and PIP joints; limited neck mobility; pes planus; disc disease at C3-C4; moderate to severe spinal canal stenosis at C4-C6; Schmorl nodes at T7, T8 and T9; disc desiccation at L2-L4; mild diffuse disc buldge at L1-L3 and L4-S1; affected daughter is GM21556 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|